ClinVar Miner

List of variants in gene MAN2B1 reported as pathogenic for Inborn genetic diseases

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680

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